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Gilliland, D. Gary; Song, Woo-Joo; Sullivan, Melanie G; Legare, Robert D; Hutchings, Sarah; Tan, Xiaolian; Kufrin, Dubravka; Ratajczak, Janina; Resende, Isabel C; Haworth, Catherine; Hock, Randy; Loh, Mignon; Felix, Carolyn; Roy, Denis-Claude; Busque, Lambert; Kurnit, David; Willman, Cheryl; Gewirtz, Alan M; Speck, Nancy A; Bushweller, John H; Li, Frederick P; Gardiner, Katheleen; Poncz, Mortimer; Maris, John M
Nature genetics, 10/1999, Letnik: 23, Številka: 2Journal Article
Familial platelet disorder with predisposition to acute myelogenous leukaemia (FPD/AML, MIM 601399) is an autosomal dominant disorder characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukaemia (AML). Informative recombination events in 6 FPD/AML pedigrees with evidence of linkage to markers on chromosome 21q identified an 880-kb interval containing the disease gene. Mutational analysis of regional candidate genes showed nonsense mutations or intragenic deletion of one allele of the haematopoietic transcription factor CBFA2 (formerly AML1) that co-segregated with the disease in four FPD/AML pedigrees. We identified heterozygous CBFA2 missense mutations that co-segregated with the disease in the remaining two FPD/AML pedigrees at phylogenetically conserved amino acids R166 and R201, respectively. Analysis of bone marrow or peripheral blood cells from affected FPD/AML individuals showed a decrement in megakaryocyte colony formation, demonstrating that CBFA2 dosage affects megakaryopoiesis. Our findings support a model for FPD/AML in which haploinsufficiency of CBFA2 causes an autosomal dominant congenital platelet defect and predisposes to the acquisition of additional mutations that cause leukaemia.
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